Communications Biology (Jan 2023)
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
- Anthony M. Musolf,
- Annechien E. G. Haarman,
- Robert N. Luben,
- Jue-Sheng Ong,
- Karina Patasova,
- Rolando Hernandez Trapero,
- Joseph Marsh,
- Ishika Jain,
- Riya Jain,
- Paul Zhiping Wang,
- Deyana D. Lewis,
- Milly S. Tedja,
- Adriana I. Iglesias,
- Hengtong Li,
- Cameron S. Cowan,
- Consortium for Refractive Error and Myopia (CREAM),
- Ginevra Biino,
- Alison P. Klein,
- Priya Duggal,
- David A. Mackey,
- Caroline Hayward,
- Toomas Haller,
- Andres Metspalu,
- Juho Wedenoja,
- Olavi Pärssinen,
- Ching-Yu Cheng,
- Seang-Mei Saw,
- Dwight Stambolian,
- Pirro G. Hysi,
- Anthony P. Khawaja,
- Veronique Vitart,
- Christopher J. Hammond,
- Cornelia M. van Duijn,
- Virginie J. M. Verhoeven,
- Caroline C. W. Klaver,
- Joan E. Bailey-Wilson
Affiliations
- Anthony M. Musolf
- Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health
- Annechien E. G. Haarman
- Department of Ophthalmology, Erasmus Medical Center
- Robert N. Luben
- MRC Epidemiology, University of Cambridge School of Clinical Medicine
- Jue-Sheng Ong
- Statistical Genetics Laboratory, Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Karina Patasova
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Rolando Hernandez Trapero
- MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital
- Joseph Marsh
- MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital
- Ishika Jain
- Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health
- Riya Jain
- Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health
- Paul Zhiping Wang
- Institute for Biomedical Sciences, Perelman School of Medicine, University of Pennsylvania
- Deyana D. Lewis
- Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health
- Milly S. Tedja
- Department of Ophthalmology, Erasmus Medical Center
- Adriana I. Iglesias
- Department of Ophthalmology, Erasmus Medical Center
- Hengtong Li
- Data Science Unit, Singapore Eye Research Institute, Singapore National Eye Centre
- Cameron S. Cowan
- Institute for Molecular and Clinical Ophthalmology Basel
- Consortium for Refractive Error and Myopia (CREAM)
- Ginevra Biino
- Institute of Molecular Genetics, National Research Council of Italy
- Alison P. Klein
- Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health
- Priya Duggal
- The Bloomberg School of Public Health, Johns Hopkins University
- David A. Mackey
- Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia
- Caroline Hayward
- MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital
- Toomas Haller
- Estonian Genome Center, Institute of Genomics, University of Tartu
- Andres Metspalu
- Estonian Genome Center, Institute of Genomics, University of Tartu
- Juho Wedenoja
- Department of Ophthalmology, University of Helsinki and Helsinki University Hospital
- Olavi Pärssinen
- Department of Ophthalmology, Central Hospital of Central Finland
- Ching-Yu Cheng
- Centre for Quantitative Medicine, DUKE-National University of Singapore
- Seang-Mei Saw
- Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore
- Dwight Stambolian
- Department of Ophthalmology, University of Pennsylvania
- Pirro G. Hysi
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Anthony P. Khawaja
- MRC Epidemiology, University of Cambridge School of Clinical Medicine
- Veronique Vitart
- MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital
- Christopher J. Hammond
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Cornelia M. van Duijn
- Nuffield Department of Population Health, University of Oxford
- Virginie J. M. Verhoeven
- Department of Ophthalmology, Erasmus Medical Center
- Caroline C. W. Klaver
- Department of Ophthalmology, Erasmus Medical Center
- Joan E. Bailey-Wilson
- Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health
- DOI
- https://doi.org/10.1038/s42003-022-04323-7
- Journal volume & issue
-
Vol. 6,
no. 1
pp. 1 – 17
Abstract
A multi-ethnic meta-analysis of exome array data from over 27,000 participants identifies several rare variants that could contribute to risk of ocular refractive error.
